Dr. Paul Harmatz is a Professor in Residence at University of California, San Francisco. He is a Gastroenterologist who specializes in Mucopolysaccharidoses (MPS) and other Lysosomal Storage Diseases. He leads a team of specialists who diagnose and care for patients with these rare diseases, offering therapies such as weekly enzyme infusion.

Dr. Harmatz’s research focuses in particular on promising new treatments for MPS disease. He has led clinical trials to evaluate treatments for a variety of MPS and other lysosomal storage diseases, resulting in approval from the Food and Drug Administration for five specific treatments. He also led the first trial on a drug to treat Mucopolysaccharidosis Type VI (also called Maroteaux-Lamy syndrome or MPS VI). In addition, he led a trial in which genome editing was done inside a human body for the first time in an effort to change the DNA of a patient with Mucopolysaccharidosis Type II (also known as Hunter syndrome or MPS II).

Dr. Harmatz earned his medical degree from Dartmouth Geisel School of Medicine. He completed a residency in pediatrics at Harbor – UCLA Medical Center, followed by a fellowship in pediatric gastroenterology and nutrition at Massachusetts General Hospital. Prior to joining UCSF, he served on the faculty of Harvard Medical School for 12 years.

Representative Publications:

Quantitative Brain MRI Morphology in Severe and Attenuated Forms of Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome): Defining and Measuring Functional Impacts in Pediatric Patients

Evaluation of the Long-Term Treatment Effects of Intravenous Idursulfase in Patients With Mucopolysaccharidosis II (MPS II) Using Statistical Modeling: Data From the Hunter Outcome Survey (HOS)

Long-Term Outcomes of Patients With Mucopolysaccharidosis VI Treated With Galsulfase Enzyme Replacement Therapy Since Infancy

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